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dc.contributor.authorAhmedli, Novruz B.
dc.contributor.authorGribanova, Yekaterina
dc.contributor.authorNjoku, Collins C.
dc.contributor.authorNaidu, Akash
dc.contributor.authorYoung, Alejandra
dc.contributor.authorMendoza, Emmanuel
dc.contributor.authorYamashita, Clyde K.
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorJohnson, Jerry E.
dc.contributor.authorFox, Donald A.
dc.contributor.authorFarber, Debora B.
dc.date.accessioned2020-01-30T08:27:00Z
dc.date.available2020-01-30T08:27:00Z
dc.date.issued2013
dc.identifier.issn1083-351X
dc.identifier.urihttps://doi.org/10.1074/jbc.M112.419960
dc.identifier.urihttp://hdl.handle.net/11655/21945
dc.description.abstractThe novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed from embryonic stages to adulthood, and its levels show age-dependent changes. RHBDD2 is distinctly abundant in the perinuclear region of cells, and it localizes to their Golgi. A glycine zipper motif present in one of the transmembrane domains of RHBDD2 is important for its packing into the Golgi membranes. Its deletion causes dislodgment of RHBDD2 from the Golgi. A specific antibody against RHBDD2 recognizes two forms of the protein, one with low (39 kDa; RHBDD2(L)) and the other with high (117 kDa; RHBDD2(H)) molecular masses in mouse retinal extracts. RHBDD2(L) seems to be ubiquitously expressed in all retinal cells. In contrast, RHBDD2(H) seems to be present only in the outer segments of cone photoreceptors and may correspond to a homotrimer of RHBDD2(L). This protein consistently co-localizes with S- and M-types of cone opsins. We identified a homozygous mutation in the human RHBDD2 gene, R85H, that co-segregates with disease in affected members of a family with autosomal recessive retinitis pigmentosa. Our findings suggest that the RHBDD2 protein plays important roles in the development and normal function of the retina.tr_TR
dc.language.isoengtr_TR
dc.publisherAmer Soc Biochemistry Molecular Biology Inctr_TR
dc.relation.isversionof10.1074/jbc.M112.419960tr_TR
dc.rightsinfo:eu-repo/semantics/openAccesstr_TR
dc.subjectCloningtr_TR
dc.subjectGene expressiontr_TR
dc.subjectImmunohistochemistrytr_TR
dc.subjectMolecular cell biologytr_TR
dc.subjectMutagenesistr_TR
dc.subjectSite-specifictr_TR
dc.subjectRetinatr_TR
dc.subjectCone outer segmentstr_TR
dc.subjectGlycine zippertr_TR
dc.subjectGolgi localizationtr_TR
dc.subjectRetinitis pigmentosatr_TR
dc.subject.lcshKonu Başlıkları Listesi::Tıptr_TR
dc.titleDynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosatr_TR
dc.typeinfo:eu-repo/semantics/articletr_TR
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalJournal Of Biological Chemistrytr_TR
dc.contributor.departmentPediatrik Temel Bilimlertr_TR
dc.identifier.volume288tr_TR
dc.identifier.issue14tr_TR
dc.identifier.startpage9742tr_TR
dc.identifier.endpage9754tr_TR
dc.indexingWoStr_TR
dc.indexingScopustr_TR
dc.fundingYoktr_TR


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